Publications

• Boileau C, Guo DC, Hanna N, Regalado ES, Detaint D, Gong L, Varret M, Prakash SK, Li AH, d'Indy H, Braverman AC, Grandchamp B, Kwartler CS, Gouya L, Santos-Cortez RL, Abifadel M, Leal SM, Muti C, Shendure J, Gross MS, Rieder MJ, Vahanian A, Nickerson DA, Michel JB; National Heart, Lung, and Blood Institute (NHLBI) Go Exome Sequencing Project, Jondeau G, Milewicz DM. 2012. TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. Nat Genet. 44(8):916-921. PMID: 22772371

• Emond MJ, Louie T, Emerson J, Zhao W, Mathias RA, Knowles MR, Wright FA, Rieder MJ, Tabor HK, Nickerson DA, Barnes KC; National Heart, Lung, and Blood Institute (NHLBI) GO Exome Sequencing Project; Lung GO, Gibson RL, Bamshad MJ. 2012. Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis. Nat Genet. 44(8):886-9. PMID:22772370

• Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, McGee S, Do R, Liu X, Jun G, Kang HM, Jordan D, Leal SM, Gabriel S, Rieder MJ, Abecasis G, Altshuler D, Nickerson DA, Boerwinkle E, Sunyaev S, Bustamante CD, Bamshad MJ, Akey JM; Broad GO; Seattle GO; on behalf of the NHLBI Exome Sequencing Project. 2012. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 337(6069):64-9. PMID: 22604720

• Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP; NHLBI Exome Sequencing Project, Quinlan AR, Nickerson DA, Eichler EE. 2012. Copy number variation detection and genotyping from exome sequence data. Genome Res. 22(8):1525-32. PMID: 22585873

• Norton N, Robertson PD, Rieder MJ, Züchner S, Rampersaud E, Martin E, Li D, Nickerson DA, Hershberger RE; National Heart, Lung and Blood Institute GO Exome Sequencing Project. 2012. Evaluating pathogenicity of rare variants form dilated cardiomyopathy in the exome era. Circ Cardiovasc Genet. 5(2):167-74. PMCID: PMC3332064

• Regalado ES, Guo DC, Villamizar C, Avidan N, Gilchrist D, McGillivray B, Clarke L, Bernier F, Santos-Cortez RL, Leal SM, Bertoli-Avella AM, Shendure J, Rieder MJ, Nickerson DA; NHLBI GO Exome Sequencing Project, Milewicz DM. 2011. Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. Circ Res. 109(6):680-6. PMID: 21778426